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Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome.
[kabuki syndrome]
First
described
in
Japanese
patients
,
Kabuki
syndrome
(
KS
)
is
a
congenital
condition
associated
with
multiple
anomalies
and
mental
retardation
.
Although
urological
and
immune
abnormalities
are
common
in
KS
,
immune
complex
nephritis
such
as
membranoproliferative
glomerulonephritis
(
MPGN
)
has
not
yet
been
reported
.
We
describe
the
first
reported
case
of
a
KS
patient
with
common
variable
immunodeficiency
(
CVI
)
and
recurrent
otitis
media
who
developed
severe
proteinuria
and
hematuria
due
to
MPGN
Type
3
detected
during
the
school
urinary
screening
program
in
Japan
.
The
patient
was
intravenously
treated
with
methylprednisolone
pulses
followed
by
alternate-
day
prednisolone
and
an
angiotensin
receptor
blocker
.
The
patient
showed
remarkable
improvement
in
both
histological
and
urinary
analyses
.
This
case
report
suggests
that
immune
abnormalities
associated
with
KS
can
play
an
important
role
in
the
development
of
MPGN
.
Urinalysis
should
be
regularly
performed
in
KS
patients
with
hypogammaglobulinemia
and
/
or
recurrent
infection
.
Diseases
Validation
Diseases presenting
"first reported case"
symptom
achondroplasia
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
aniridia
cutaneous mastocytosis
dedifferentiated liposarcoma
epidermolysis bullosa simplex
fabry disease
focal myositis
harlequin ichthyosis
heparin-induced thrombocytopenia
kabuki syndrome
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
thoracic outlet syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
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